growth differentiation factor 6
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The GDF6 gene provides instructions for making a protein that is part of the transforming growth factor beta (TGFβ) superfamily, which is a group of proteins that help control the growth and development of tissues throughout the body. Within the TGFβ superfamily, the GDF6 protein belongs to the bone morphogenetic protein family, which helps regulate the growth and maturation (differentiation) of bone and cartilage. Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. The proteins in this family help regulate cell growth and differentiation both before and after birth. The GDF6 protein is necessary for the formation of bones and joints in the limbs, skull, spine, chest, and ribs.
Normal function
The GDF6 gene provides instructions for making a protein that is part of the transforming growth factor beta (TGFβ) superfamily, which is a group of proteins that help control the growth and development of tissues throughout the body. Within the TGFβ superfamily, the GDF6 protein belongs to the bone morphogenetic protein family, which helps regulate the growth and maturation (differentiation) of bone and cartilage. Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. The proteins in this family help regulate cell growth and differentiation both before and after birth. The GDF6 protein is necessary for the formation of bones and joints in the limbs, skull, spine, chest, and ribs.
The GDF6 protein is also involved in the development of the eyes, specifically the specialized light-sensitive tissue that lines the back of the eye called the retina. The GDF6 protein likely plays a role in the survival of specialized cells within the retina that detect light and colour (photoreceptor cells).
Conditions referring to this gene or chromosome
Other names
BMP13
CDMP2
GDF-6
growth/differentiation factor 6
KFS
KFS1
SCDO4
SGM1
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Leitura adicional e referências
- growth differentiation factor 6; MedlinePlus, National Library of Medicine.
- Asai-Coakwell M, March L, Dai XH, Duval M, Lopez I, French CR, Famulski J, De Baere E, Francis PJ, Sundaresan P, Sauve Y, Koenekoop RK, Berry FB, Allison WT, Waskiewicz AJ, Lehmann OJ. Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. Hum Mol Genet. 2013 Apr 1;22(7):1432-42. doi: 10.1093/hmg/dds560. Epub 2013 Jan 9.
- Frikha R. Klippel-Feil syndrome: a review of the literature. Clin Dysmorphol. 2020 Jan;29(1):35-37. doi: 10.1097/MCD.0000000000000301.
- Jae-Min Park A, Nelson SE, Mesfin A. Klippel-Feil Syndrome: Clinical Presentation and Management. JBJS Rev. 2022 Feb 15;10(2). doi: 10.2106/JBJS.RVW.21.00166.
- Litrenta J, Bi AS, Dryer JW. Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management. J Am Acad Orthop Surg. 2021 Nov 15;29(22):951-960. doi: 10.5435/JAAOS-D-21-00190.
- Menger RP, Rayi A, Notarianni C. Klippel Feil Syndrome. 2024 May 11. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK493157/
- Portnoy ME, McDermott KJ, Antonellis A, Margulies EH, Prasad AB; NISC Comparative Sequencing Program; Kingsley DM, Green ED, Mortlock DP. Detection of potential GDF6 regulatory elements by multispecies sequence comparisons and identification of a skeletal joint enhancer. Genomics. 2005 Sep;86(3):295-305. doi: 10.1016/j.ygeno.2005.05.003.
- Pregizer S, Mortlock DP. Control of BMP gene expression by long-range regulatory elements. Cytokine Growth Factor Rev. 2009 Oct-Dec;20(5-6):509-15. doi: 10.1016/j.cytogfr.2009.10.011. Epub 2009 Nov 8.
- Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, Manson FD, Murrell D, Clarke RA. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum Mutat. 2008 Aug;29(8):1017-27. doi: 10.1002/humu.20741.
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